A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030180



Internal ID18772711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7820793..8019591hg38UCSC Ensembl
Innerchr7:7860424..8059221hg19UCSC Ensembl
Innerchr7:7826949..8025746hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38198799
hg19198798
hg18198798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3655108
Samples
Known GenesGLCCI1, RPA3-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030180
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer